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ethylmalonic acid and Decreased Muscle Tone

ethylmalonic acid has been researched along with Decreased Muscle Tone in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's2 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Biberoglu, G; Ezgü, FS; Okuyaz, C; Tiranti, V; Yilgör, E; Zeviani, M1
Belloy, F; Bonamy, C; Constans, JM; Guillois, B; Jakobs, C; Kottler, ML; Laloum, D; Read, MH; Verhoeven, NM1
Bhala, A; Böhles, H; Hale, DE; Herwig, J; Rinaldo, P; Sewell, AC1
Geiger, R; Lehnert, W; Rhead, W; Sperl, W1

Other Studies

4 other study(ies) available for ethylmalonic acid and Decreased Muscle Tone

ArticleYear
Severe infantile hypotonia with ethylmalonic aciduria: case report.
    Journal of child neurology, 2008, Volume: 23, Issue:6

    Topics: Alleles; Butyryl-CoA Dehydrogenase; Developmental Disabilities; Diagnosis, Differential; DNA Mutational Analysis; Female; Genotype; Humans; Infant; Lipid Metabolism, Inborn Errors; Malonates; Muscle Hypotonia; Muscle Weakness; Neurologic Examination; Phenotype; Polymorphism, Genetic

2008
Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Brain; Brain Diseases, Metabolic, Inborn; Cysts; Electroencephalography; Fatal Outcome; Female; Fumarates; Glutarates; Humans; Infant, Newborn; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Malonates; Muscle Hypotonia; Seizures; Stereoisomerism

2005
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
    European journal of pediatrics, 1993, Volume: 152, Issue:11

    Topics: Acyl-CoA Dehydrogenases; Bronchopneumonia; Child, Preschool; Female; Humans; Lipid Metabolism, Inborn Errors; Malonates; Muscle Hypotonia

1993
Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    European journal of pediatrics, 1997, Volume: 156, Issue:10

    Topics: Adipates; Child; Child, Preschool; Fatty Acid Desaturases; Fibroblasts; Follow-Up Studies; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Male; Malonates; Mitochondrial Myopathies; Muscle Hypotonia; Respiratory Sounds; Riboflavin

1997